Keddache MA - Search Results

1

Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies.

Makishima H, Jankowska AM, Tiu RV, Szpurka H, Sugimoto Y, Hu Z, Saunthararajah Y, Guinta K, Keddache MA, Putnam P, Sekeres MA, Moliterno AR, List AF, McDevitt MA, Maciejewski JP. Makishima H, et al. Among authors: keddache ma. Leukemia. 2010 Oct;24(10):1799-804. doi: 10.1038/leu.2010.167. Epub 2010 Aug 19. Leukemia. 2010. PMID: 20724984 No abstract available.

2

Lampe1: an ENU-germline mutation causing spontaneous hepatosteatosis identified through targeted exon-enrichment and next-generation sequencing.

Sheridan R, Lampe K, Shanmukhappa SK, Putnam P, Keddache M, Divanovic S, Bezerra J, Hoebe K. Sheridan R, et al. PLoS One. 2011;6(7):e21979. doi: 10.1371/journal.pone.0021979. Epub 2011 Jul 7. PLoS One. 2011. PMID: 21760938 Free PMC article.

3

Integrated Genomic Analysis of Diverse Induced Pluripotent Stem Cells from the Progenitor Cell Biology Consortium.

Salomonis N, Dexheimer PJ, Omberg L, Schroll R, Bush S, Huo J, Schriml L, Ho Sui S, Keddache M, Mayhew C, Shanmukhappa SK, Wells J, Daily K, Hubler S, Wang Y, Zambidis E, Margolin A, Hide W, Hatzopoulos AK, Malik P, Cancelas JA, Aronow BJ, Lutzko C. Salomonis N, et al. Stem Cell Reports. 2016 Jul 12;7(1):110-25. doi: 10.1016/j.stemcr.2016.05.006. Epub 2016 Jun 9. Stem Cell Reports. 2016. PMID: 27293150 Free PMC article.

4

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K. Sivakumaran TA, et al. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22. Otolaryngol Head Neck Surg. 2013. PMID: 23525850

5

Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase.

Dasgupta N, Xu YH, Oh S, Sun Y, Jia L, Keddache M, Grabowski GA. Dasgupta N, et al. PLoS One. 2013 Oct 4;8(10):e74912. doi: 10.1371/journal.pone.0074912. eCollection 2013. PLoS One. 2013. PMID: 24124461 Free PMC article.

6

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Schorry EK, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9. doi: 10.1002/ajmg.a.32424. Am J Med Genet A. 2008. PMID: 18792986

7

Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.

Namjou B, Keddache M, Fletcher D, Dillon S, Kottyan L, Wiley G, Gaffney PM, Wakeland BE, Liang C, Wakeland EK, Scofield RH, Kaufman K, Harley JB. Namjou B, et al. Lupus. 2012 Sep;21(10):1113-8. doi: 10.1177/0961203312443993. Epub 2012 Apr 3. Lupus. 2012. PMID: 22472776 Free PMC article.

8

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy.

Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH. Holland KD, et al. Neurosci Lett. 2008 Mar 5;433(1):65-70. doi: 10.1016/j.neulet.2007.12.064. Epub 2008 Jan 11. Neurosci Lett. 2008. PMID: 18242854 Free PMC article.

9

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.

Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW. Martin LJ, et al. Circ Cardiovasc Genet. 2014 Oct;7(5):677-83. doi: 10.1161/CIRCGENETICS.114.000526. Epub 2014 Aug 1. Circ Cardiovasc Genet. 2014. PMID: 25085919

10

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.

Zhao H, Keddache M, Bailey L, Arnold G, Grabowski G. Zhao H, et al. Clin Genet. 2003 Jul;64(1):57-64. doi: 10.1034/j.1399-0004.2003.00100.x. Clin Genet. 2003. PMID: 12791040

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